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Early myoclonic encephalopathy (EME) is a rare neonatal-onset epilepsy developmental and epileptic encephalopathy (DEE) with an onset at neonatal period or during the first 3 months of life. [2] This syndrome is now included as part of the Early infantile developmental and epileptic encephalopathy (EIDEE) under the 2022 ILAE (International ...
Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, and renamed "Epilepsy with myoclonic-atonic seizures" in the ILAE 2017 classification, is a generalized idiopathic epilepsy. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures. Some of the common monogenic ...
In the field of neurology, seizure types are categories of seizures defined by seizure behavior, symptoms, and diagnostic tests.The International League Against Epilepsy (ILAE) 2017 classification of seizures is the internationally recognized standard for identifying seizure types. [1]
This 2014 definition of the International League Against Epilepsy [10] (ILAE) is a clarification of the ILAE 2005 conceptual definition, according to which epilepsy is "a disorder of the brain characterized by an enduring predisposition to generate epileptic seizures and by the neurobiologic, cognitive, psychological, and social consequences of ...
Syndromes are characterized into 4 groups based on epilepsy type: [1] a. Generalized onset epilepsy syndromes. These epilepsy syndromes have only generalized-onset seizures and include both the idiopathic generalized epilepsies (specifically childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic- clonic seizures alone), as well as ...
Diagnosis of PME is based on the individual's signs and symptoms as well as failure to respond to antiepileptic drugs and therapy. [3] Further diagnosis support includes EEG results, genetic testing, enzyme testing, and skin and muscle biopsies. [2] Gaucher's disease can be diagnosed through enzyme testing as it is a metabolic disease. [4]
Epileptic Disorders is a peer-reviewed medical journal focusing on quality scientific and educational content related to all aspects of epilepsy including its diagnosis, natural history, and management. The current editor-in-chief is Sandor Beniczky and it is published by John Libbey Eurotext.
Based on the 2010 guidelines from the International League against Epilepsy (ILAE), DRE is officially diagnosed following a lack of therapeutic relief in the form of continued seizure burden after trialing at least two antiepileptic drugs (AEDs) at the appropriate dosage and duration.